DCLRE1B

DCLRE1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3BUA, 5AHO
Identifiers
Aliases	DCLRE1B , APOLLO, SNM1B, SNMIB, DNA cross-link repair 1B
External IDs	OMIM: 609683; MGI: 2156057; HomoloGene: 32553; GeneCards: DCLRE1B; OMA:DCLRE1B - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p13.2 Start 113,905,213 bp [1] End 113,914,086 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F2.2 Start 103,707,921 bp [2] End 103,716,760 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gonad ganglionic eminence ventricular zone monocyte skin of hip testicle granulocyte bone marrow trabecular bone Top expressed in granulocyte blood otic vesicle cumulus cell yolk sac endocardial cushion external carotid artery abdominal wall ventricular zone tail of embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 5'-3' exonuclease activity 5'-3' exodeoxyribonuclease activity damaged DNA binding protein binding nuclease activity exonuclease activity hydrolase activity protein homodimerization activity protein-containing complex binding Cellular component cytoplasm centrosome chromosome microtubule organizing center telomere cytoskeleton nucleus nucleoplasm nuclear body Biological process cell cycle checkpoint signaling protection from non-homologous end joining at telomere telomeric 3' overhang formation cellular response to DNA damage stimulus double-strand break repair via nonhomologous end joining telomere maintenance telomeric loop formation DNA repair nucleic acid phosphodiester bond hydrolysis telomere maintenance via telomere lengthening telomere capping interstrand cross-link repair mitotic cell cycle checkpoint signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64858 140917 Ensembl ENSG00000118655 ENSMUSG00000027845 UniProt Q9H816 Q8C7W7 RefSeq (mRNA) NM_022836 NM_001319946 NM_001319947 NM_001363690 NM_001363691 NM_001025312 NM_133865 RefSeq (protein) NP_001306875 NP_001306876 NP_073747 NP_001350619 NP_001350620 NP_001020483 NP_598626 Location (UCSC) Chr 1: 113.91 – 113.91 Mb Chr 3: 103.71 – 103.72 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene. ^[5]

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000).[supplied by OMIM] ^[5]

Function

The DCLRE1B/SNM1B/Apollo protein is a repair exonuclease that digests double-stranded and single-stranded DNA with a 5’ to 3’ directionality. ^[6]

Using an SNM1B/Apollo knockout mouse model, evidence was obtained that SNM1B/Apollo protein is required to protect telomeres against illegitimate non-homologous end joining that can result in genomic instability and consequently in multi-organ developmental failure. ^[7]

In a human patient with Hoyeraal-Hreidarsson syndrome, a dominant negative mutation in the SNM1B/Apollo gene was discovered. ^[8] This mutation hampered the proper replication of telomeres, leading to major telomeric dysfunction and cellular senescence. SNM1B/Apollo protein appears to be a crucial factor in telomere maintenance, independent of its function in repairing DNA inter-strand crosslinks. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000118655 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027845 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)".
6. Sengerová B, Allerston CK, Abu M, Lee SY, Hartley J, Kiakos K, Schofield CJ, Hartley JA, Gileadi O, McHugh PJ (2012). "Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases". J. Biol. Chem. 287 (31): 26254–67. doi: 10.1074/jbc.M112.367243 . PMC   3406710 . PMID   22692201.
7. Akhter S, Lam YC, Chang S, Legerski RJ (2010). "The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development". Aging Cell. 9 (6): 1047–56. doi:10.1111/j.1474-9726.2010.00631.x. PMC   3719988 . PMID   20854421.
8. Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P (2010). "Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome". Proc. Natl. Acad. Sci. U.S.A. 107 (22): 10097–102. Bibcode:2010PNAS..10710097T. doi: 10.1073/pnas.0914918107 . PMC   2890423 . PMID   20479256.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Demuth I, Digweed M, Concannon P (2004). "Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation". Oncogene. 23 (53): 8611–8. doi:10.1038/sj.onc.1207895. PMID   15467758. S2CID   10082205.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ishiai M, Kimura M, Namikoshi K, et al. (2004). "DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formation". Mol. Cell. Biol. 24 (24): 10733–41. doi:10.1128/MCB.24.24.10733-10741.2004. PMC   533992 . PMID   15572677.
• Freibaum BD, Counter CM (2006). "hSnm1B is a novel telomere-associated protein". J. Biol. Chem. 281 (22): 15033–6. doi: 10.1074/jbc.C600038200 . PMID   16606622.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Lenain C, Bauwens S, Amiard S, et al. (2006). "The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair". Curr. Biol. 16 (13): 1303–10. Bibcode:2006CBio...16.1303L. doi: 10.1016/j.cub.2006.05.021 . PMID   16730175.
• van Overbeek M, de Lange T (2006). "Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase". Curr. Biol. 16 (13): 1295–302. Bibcode:2006CBio...16.1295V. doi: 10.1016/j.cub.2006.05.022 . PMID   16730176. S2CID   121737.